ACVR1


Also found in: Dictionary, Thesaurus, Wikipedia.

ACVR1

A gene on chromosome 2q23-q24 that encodes activin receptor type I, a receptor that forms a complex with other type-I and two type-II transmembrane serine/threonine kinase receptors for activin, a dimeric growth and differentiating factor belonging to the TGF-beta superfamily of structurally related signalling proteins. Type-II receptors phosphorylate and activate type-I receptors, which autophosphorylate, then bind and activate SMAD transcriptional regulators, playing roles in cell differentiation, growth arrest and apoptosis. 

Molecular pathology
ACVR1 mutations are linked to fibrodysplasia ossificans progressive.
References in periodicals archive ?
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date.